Canonical Allele Identifier: CA219546

Gene: NF1

Linked Data

• ClinVar Variation Id: 68341
• ClinVar RCV Id: RCV000059193 ; RCV000213660 ; RCV000762988 ; RCV000824729 ; RCV002470752 ; RCV002318951
• dbSNP Id: rs137854556
• gnomAD v2: 17-29562747-G-A
• gnomAD v3: 17-31235729-G-A
• gnomAD v4: 17-31235729-G-A
• COSMIC: COSM24497 ; COSM1318520
• MyVariant Identifiers: chr17:g.29562747G>A (hg19) ; chr17:g.31235729G>A (hg38)
• CIViC: CA219546
• PubMed: PMID:9302992 ; PMID:9545275 ; PMID:9668168 ; PMID:10712197 ; PMID:15060124 ; PMID:16479075 ; PMID:22807134 ; PMID:23047742 ; PMID:23758643 ; PMID:24951259

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31235729G>A , CM000679.2:g.31235729G>A	GRCh38
NC_000017.10:g.29562747G>A , CM000679.1:g.29562747G>A	GRCh37
NC_000017.9:g.26586873G>A	NCBI36
NG_009018.1:g.145753G>A , LRG_214:g.145753G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.3872G>A	ENSP00000512431.1:p.Arg1291Gln
ENST00000696139.1:c.1172G>A	ENSP00000512432.1:p.Arg391Gln
ENST00000687863.1:n.535G>A
ENST00000691014.1:c.3857G>A	ENSP00000510595.1:p.Arg1286Gln
ENST00000358273.9:c.3827G>A MANE Select	ENSP00000351015.4:p.Arg1276Gln
ENST00000356175.7:c.3827G>A	ENSP00000348498.3:p.Arg1276Gln
ENST00000358273.8:c.3827G>A	ENSP00000351015.4:p.Arg1276Gln
ENST00000456735.6:c.2825G>A	ENSP00000389907.2:p.Arg942Gln
ENST00000466819.5:c.303G>A
ENST00000479614.1:c.303G>A
ENST00000493220.5:n.2363G>A
ENST00000495910.6:c.3602G>A
ENST00000579081.5:c.3929G>A	ENSP00000462408.1:p.Arg1310Gln
NM_000267.3:c.3827G>A , LRG_214t1:c.3827G>A	NP_000258.1:p.Arg1276Gln
NM_001042492.2:c.3827G>A , LRG_214t2:c.3827G>A	NP_001035957.1:p.Arg1276Gln
XM_005257983.1:c.3827G>A	XP_005258040.1:p.Arg1276Gln
XM_005257984.1:c.3827G>A	XP_005258041.1:p.Arg1276Gln
XM_006721922.1:c.3857G>A	XP_006721985.1:p.Arg1286Gln
XM_006721923.2:c.3818G>A	XP_006721986.1:p.Arg1273Gln
XM_006721924.1:c.3857G>A	XP_006721987.1:p.Arg1286Gln
XM_006721925.1:c.3857G>A	XP_006721988.1:p.Arg1286Gln
XM_006721926.2:c.3857G>A	XP_006721989.1:p.Arg1286Gln
XM_006721927.1:c.3857G>A	XP_006721990.1:p.Arg1286Gln
XM_006721928.2:c.3857G>A	XP_006721991.1:p.Arg1286Gln
XM_011524852.1:c.3854G>A	XP_011523154.1:p.Arg1285Gln
XM_011524853.1:c.3818G>A	XP_011523155.1:p.Arg1273Gln
XM_011524854.1:c.3818G>A	XP_011523156.1:p.Arg1273Gln
XM_011524855.1:c.3818G>A	XP_011523157.1:p.Arg1273Gln
XM_011524856.1:c.3818G>A	XP_011523158.1:p.Arg1273Gln
XM_011524857.1:c.3857G>A	XP_011523159.1:p.Arg1286Gln
NM_001042492.3:c.3827G>A MANE Select	NP_001035957.1:p.Arg1276Gln